For the diagnosis, the features occurring in Gorlin syndrome were first divided into major and minor criteria. It was then determined that the diagnosis of “Gorlin syndrome” is confirmed if the following constellation is present:<\/p>\n
\n- 2 major criteria and 1 minor criterion or 1 major criterion and 3 minor criteria<\/li>\n
- Genetic evidence of a pathogenic variant (genetic change) in the genes responsible for the development of Gorlin syndrome (PTCH1<\/em> or SUFU<\/em>)<\/li>\n<\/ul>\n<\/div>
Major Criteria<\/h4><\/div><\/div><\/div>
\n- Multiple basal cell carcinomas (> 5) or a basal cell carcinoma before the age of 30<\/li>\n
- First-degree relative with basal cell carcinoma<\/li>\n
- Calcification of the falx cerebri (part of the hard meninges that separates the two cerebral hemispheres) before the age of 20<\/li>\n
- Jaw cysts<\/li>\n
- Cornification disorders on hands and\/or feet (> 1)<\/li>\n<\/ul>\n<\/div>
Minor Criteria<\/h4><\/div><\/div><\/div>
\n- Medulloblastoma of childhood<\/li>\n
- Cysts in the abdomen or lungs<\/li>\n
- Macrocephaly (larger than average skull)<\/li>\n
- Cleft lip\/palate<\/li>\n
- Vertebral body\/rib anomalies<\/li>\n
- Polydactyly (extra fingers or toes)<\/li>\n
- Fibromas (benign tumors) on the ovaries or heart<\/li>\n
- Eye abnormalities (cataracts, developmental defects, pigmentary changes in the retina)<\/li>\n<\/ul>\n
Several X-ray examinations are usually required to confirm the clinical diagnosis. These include X-ray examinations of the skull, jaw, lungs, and spine.<\/p>\n
As this is a hereditary disease, blood-related family members of a person with a proven genetic change should be genetically tested as early as possible due to the early occurrence of medulloblastoma in particular.<\/p>\n
In children with special medulloblastoma subgroups (so-called SHH group), Gorlin syndrome should always be ruled out, even if other features of the syndrome are absent.<\/p>\n<\/div>
Further Clinical Criteria<\/h4><\/div>